FBN1 mutation in Chinese patients with Marfan syndrome and its gene diagnosis using haplotype linkage analysis

Chinese Medical Journal

Volumn 116, Issue 7, 2003, Pages 1043-1046

  Wang, Bing ^a   Hu, Dongxu ^a   Xia, Jiahui ^a   Li, Qi ^a   Yang, Jinfu ^a   Lu, Guohua ^a  

^a CENTRAL SOUTH UNIVERSITY   (China)

Author keywords

FBN1 gene; Haplotype; Marfan syndrome

Indexed keywords

COMPLEMENTARY DNA; NUCLEIC ACID BASE;

ARTICLE; CHINESE; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FAMILY; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HAPLOTYPE; HUMAN; LINKAGE ANALYSIS; MARFAN SYNDROME; POLYMERASE CHAIN REACTION; SEGREGATION ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM;

HAPLOTYPES; HUMANS; LINKAGE (GENETICS); MARFAN SYNDROME; MICROFILAMENT PROTEINS; MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 0043062683     PISSN: 03666999     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (13)

1. Gray JR, Bridges AB, Faed MJ, et al. Ascertainment and severity of Marfan syndrome in a Scottish population. J Med Genet 1994;31:51-54.
2. Lee B, Godfrey M, Vitale E, et al. Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. Nature 1991;352:330-334.
3. Pereira L, D'Alessio M, Ramirez F, et al. Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome. Hum Mol Genet 1993;2: 961-968.
4. Putnam EA, Cho M, Zinn AB, et al. Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene. Am J Med Genet 1996;62:233-242.
5. Hayward C, Porteous ME, Brock DJH, et al. Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan sydrome: report of 12 novel mutations. Hum Mutat 1997;10:280-289.
6. Pape AD, Devereux RB, Dietz HC, et al. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 1996;62: 417-426.
7. Nijbroek G, Sood S, McIntosh L, et al. Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons. Am J Hum Genet 1995;57:8-21.
8. Pereira L, Levran O, Ramirez F, et al. A molecular approach to the stratification of cardiovascular risk in families with Marfan syndrome. N Engl J Med 1994;331:148-153.
9. Collod G, Babron MC, Jondeau G, et al. A second locus for Marfan syndrome maps to chromosome 3p24.2-p25. Nat Genet 1994;8:264-268.
10. Dietz H, Franche U, Furthmayar H, et al. The question of heterogeneity in Marfan syndrome. Nat Genet 1995;9:228-231.
11. Collod-Beroud G, Beroud C, Ades L, et al. Marfan database (third edition) : new mutations and new routines for the software. Nucleic Acids Res 1998;26:229-233.
12. Ivan FM, Rosanna MS, Fanny WF, et al. Missense mutations of the fibrillin-1 gene in two Chinese patients with severe. Marfan syndrome. Chin Med J 2001;114:473-476.
13. Ramsey R. DNA chips: State of the art. Nat Biotechnol 1998;16:40.